Varaico: Literature-Extracted Genetic Variants

Gene:EXO1
Variant:p.S540*

EXO1

925 papers

RefSeq Summary

This gene encodes a protein with 5' to 3' exonuclease activity as well as an RNase H activity. It is similar to the Saccharomyces cerevisiae protein Exo1 which interacts with Msh2 and which is involve...

Pfam Domains

XPG_Naa 1–99UCSCXPG N-terminal domain
XPG_Iaa 141–225UCSCXPG I-region

Gene Aliases

HGNC Name

exonuclease 1

HGNC Alias Symbols

HEX1; hExoI

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
2 papers
NM_130398.4
p.S540*
c.1619C>G
Surrounding Variants
2 papers
NM_130398.4
p.S540*
c.1619C>A
1 paper
NM_130398.4
p.E541K
c.1621G>A
1 paper
NM_130398.4
p.E541V
c.1622A>T
1 paper
NM_130398.4
p.H538R
c.1613A>G
2 papers
NM_130398.4
p.Y542*
c.1626T>A
2 papers
NM_130398.4
p.Y542*
c.1626T>G
1 paper
NM_130398.4
p.G543G
c.1629A>G
1 paper
NM_130398.4
p.E546V
c.1637A>T
1 paper
NM_130398.4
p.G547A
c.1640G>C
1 paper
NM_130398.4
p.K533E
c.1597A>G
1 paper
NM_130398.4
p.G547G
c.1641C>T
1 paper
NM_130398.4
p.L550Q
c.1649T>A
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